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TERC Deficiency

MedGen UID:
925674
•Concept ID:
C4288142
•
Disease or Syndrome

Definition

A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTERC Deficiency

Recent clinical studies

Etiology

Senescence-related impairment of autophagy induces toxic intraneuronal amyloid-β accumulation in a mouse model of amyloid pathology.
Suelves N, Saleki S, Ibrahim T, Palomares D, Moonen S, Koper MJ, Vrancx C, Vadukul DM, Papadopoulos N, Viceconte N, Claude E, Vandenberghe R, von Arnim CAF, Constantinescu SN, Thal DR, Decottignies A, Kienlen-Campard P
Acta Neuropathol Commun 2023 May 17;11(1):82. doi: 10.1186/s40478-023-01578-x. PMID: 37198698Free PMC Article
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.
Donaires FS, Scatena NF, Alves-Paiva RM, Podlevsky JD, Logeswaran D, Santana BA, Teixeira AC, Chen JJ, Calado RT, Martinelli ALC
PLoS One 2017;12(8):e0183287. Epub 2017 Aug 16 doi: 10.1371/journal.pone.0183287. PMID: 28813500Free PMC Article
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
Gramatges MM, Bertuch AA
Transl Res 2013 Dec;162(6):353-63. Epub 2013 Jun 1 doi: 10.1016/j.trsl.2013.05.003. PMID: 23732052Free PMC Article
Constitutional telomerase mutations are genetic risk factors for cirrhosis.
Calado RT, Brudno J, Mehta P, Kovacs JJ, Wu C, Zago MA, Chanock SJ, Boyer TD, Young NS
Hepatology 2011 May;53(5):1600-7. doi: 10.1002/hep.24173. PMID: 21520173Free PMC Article

Diagnosis

Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.
Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.
Fernandez BA, Fox G, Bhatia R, Sala E, Noble B, Denic N, Fernandez D, Duguid N, Dohey A, Kamel F, Edwards L, Mahoney K, Stuckless S, Parfrey PS, Woods MO
Respir Res 2012 Aug 1;13(1):64. doi: 10.1186/1465-9921-13-64. PMID: 22853774Free PMC Article
Telomere maintenance and human bone marrow failure.
Calado RT, Young NS
Blood 2008 May 1;111(9):4446-55. Epub 2008 Jan 31 doi: 10.1182/blood-2007-08-019729. PMID: 18239083Free PMC Article
TERT promotes cellular and organismal survival independently of telomerase activity.
Lee J, Sung YH, Cheong C, Choi YS, Jeon HK, Sun W, Hahn WC, Ishikawa F, Lee HW
Oncogene 2008 Jun 12;27(26):3754-60. Epub 2008 Jan 28 doi: 10.1038/sj.onc.1211037. PMID: 18223679

Therapy

Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.
Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
Telomerase inhibition effectively targets mouse and human AML stem cells and delays relapse following chemotherapy.
Bruedigam C, Bagger FO, Heidel FH, Paine Kuhn C, Guignes S, Song A, Austin R, Vu T, Lee E, Riyat S, Moore AS, Lock RB, Bullinger L, Hill GR, Armstrong SA, Williams DA, Lane SW
Cell Stem Cell 2014 Dec 4;15(6):775-90. doi: 10.1016/j.stem.2014.11.010. PMID: 25479751Free PMC Article
Telomerase and telomere length in pulmonary fibrosis.
Liu T, Ullenbruch M, Young Choi Y, Yu H, Ding L, Xaubet A, Pereda J, Feghali-Bostwick CA, Bitterman PB, Henke CA, Pardo A, Selman M, Phan SH
Am J Respir Cell Mol Biol 2013 Aug;49(2):260-8. doi: 10.1165/rcmb.2012-0514OC. PMID: 23526226Free PMC Article
Mutations in the SBDS gene in acquired aplastic anemia.
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
Blood 2007 Aug 15;110(4):1141-6. Epub 2007 May 3 doi: 10.1182/blood-2007-03-080044. PMID: 17478638Free PMC Article
Cell senescence and cancer.
Mathon NF, Lloyd AC
Nat Rev Cancer 2001 Dec;1(3):203-13. doi: 10.1038/35106045. PMID: 11902575

Prognosis

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA
J Pediatr 2021 Mar;230:55-61.e4. Epub 2020 Sep 21 doi: 10.1016/j.jpeds.2020.09.038. PMID: 32971146
Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.
Gaysinskaya V, Stanley SE, Adam S, Armanios M
Chest 2020 Dec;158(6):2449-2457. Epub 2020 Jul 22 doi: 10.1016/j.chest.2020.07.025. PMID: 32710892Free PMC Article
Renal phenotype of young and old telomerase-deficient mice.
Schildhorn C, Jacobi C, Weissbrodt A, Hermstedt C, Westhoff JH, Hömme M, Bhayadia R, Gretz N, Falk CS, Schmitt R, Bröcker V, Kränzlin B, Melk A
Mech Ageing Dev 2015 Sep;150:65-73. Epub 2015 Aug 12 doi: 10.1016/j.mad.2015.08.004. PMID: 26277387
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B
Eur Respir J 2015 Aug;46(2):474-85. Epub 2015 May 28 doi: 10.1183/09031936.00040115. PMID: 26022962
Bone marrow failure and the new telomere diseases: practice and research.
Young NS
Hematology 2012 Apr;17 Suppl 1:S18-21. doi: 10.1179/102453312X13336169155132. PMID: 22507770

Clinical prediction guides

Senescence-related impairment of autophagy induces toxic intraneuronal amyloid-β accumulation in a mouse model of amyloid pathology.
Suelves N, Saleki S, Ibrahim T, Palomares D, Moonen S, Koper MJ, Vrancx C, Vadukul DM, Papadopoulos N, Viceconte N, Claude E, Vandenberghe R, von Arnim CAF, Constantinescu SN, Thal DR, Decottignies A, Kienlen-Campard P
Acta Neuropathol Commun 2023 May 17;11(1):82. doi: 10.1186/s40478-023-01578-x. PMID: 37198698Free PMC Article
Renal phenotype of young and old telomerase-deficient mice.
Schildhorn C, Jacobi C, Weissbrodt A, Hermstedt C, Westhoff JH, Hömme M, Bhayadia R, Gretz N, Falk CS, Schmitt R, Bröcker V, Kränzlin B, Melk A
Mech Ageing Dev 2015 Sep;150:65-73. Epub 2015 Aug 12 doi: 10.1016/j.mad.2015.08.004. PMID: 26277387
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
Gramatges MM, Bertuch AA
Transl Res 2013 Dec;162(6):353-63. Epub 2013 Jun 1 doi: 10.1016/j.trsl.2013.05.003. PMID: 23732052Free PMC Article
Structure-function relationship and biogenesis regulation of the human telomerase holoenzyme.
Hukezalie KR, Wong JM
FEBS J 2013 Jul;280(14):3194-204. Epub 2013 May 3 doi: 10.1111/febs.12272. PMID: 23551398
Constitutional telomerase mutations are genetic risk factors for cirrhosis.
Calado RT, Brudno J, Mehta P, Kovacs JJ, Wu C, Zago MA, Chanock SJ, Boyer TD, Young NS
Hepatology 2011 May;53(5):1600-7. doi: 10.1002/hep.24173. PMID: 21520173Free PMC Article

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